qGenEx® EP. Epilepsy

Gene	Median coverage	% covered > 10x	% covered > 20x	Associated Phenotype	OMIM disease ID
AARS	144.7	0.99	0.99	Charcot-Marie-Tooth disease, axonal, type 2N,	613287
AARS	144.7	0.99	0.99	Epileptic encephalopathy, early infantile, 29	616339
ABAT	103	1	0.99	GABA-transaminase deficiency,	613163
ABCC8	167	1	0.99	Diabetes mellitus, noninsulin-dependent,	125853
ABCC8	167	1	0.99	Diabetes mellitus, permanent neonatal,	606176
ABCC8	167	1	0.99	Diabetes mellitus, transient neonatal 2	610374
ABCC8	167	1	0.99	Hyperinsulinemic hypoglycemia, familial, 1	256450
ABCC8	167	1	0.99	Hypoglycemia of infancy, leucine-sensitive,	240800
ACTB	134.1	0.98	0.93	Baraitser-Winter syndrome 1	243310
ACTB	134.1	0.98	0.93	?Dystonia, juvenile-onset,	607371
ACY1	155.9	0.99	0.98	Aminoacylase 1 deficiency,	609924
ADCK3	146	0.99	0.98	Coenzyme Q10 deficiency, primary, 4	612016
ADSL	205.9	1	0.99	Adenylosuccinase deficiency,	103050
ALDH7A1	83.1	0.97	0.89	Epilepsy, pyridoxine-dependent,	266100
ALG1	60.3	0.53	0.49	Congenital disorder of glycosylation, type Ik,	608540
ALG11	182.7	1	0.99	Congenital disorder of glycosylation, type Ip,	613661
ALG13	107.4	0.98	0.94	Epileptic encephalopathy, early infantile, 36	300884
ALG3	125.8	1	0.99	Congenital disorder of glycosylation, type Id,	601110
ALG6	104.1	0.95	0.92	Congenital disorder of glycosylation, type Ic,	603147
AMACR	161.6	0.99	0.98	Alpha-methylacyl-CoA racemase deficiency,	614307
AMACR	161.6	0.99	0.98	Bile acid synthesis defect, congenital, 4	214950
AMT	174	1	0.99	Glycine encephalopathy,	605899
APOPT1	80.9	0.87	0.84	Mitochondrial complex IV deficiency,	220110
ARHGEF9	109.7	0.99	0.98	Epileptic encephalopathy, early infantile, 8	300607
ARX	39.1	0.82	0.7	Epileptic encephalopathy, early infantile, 1	308350
ARX	39.1	0.82	0.7	Hydranencephaly with abnormal genitalia,	300215
ARX	39.1	0.82	0.7	Lissencephaly, X-linked 2	300215
ARX	39.1	0.82	0.7	Mental retardation, X-linked 29 and others,	300419
ARX	39.1	0.82	0.7	Partington syndrome,	309510
ARX	39.1	0.82	0.7	Proud syndrome,	300004
ASAH1	141	0.98	0.92	Farber lipogranulomatosis,	228000
ASAH1	141	0.98	0.92	Spinal muscular atrophy with progressive myoclonic epilepsy,	159950
ATP1A2	209.6	1	1	Alternating hemiplegia of childhood,	104290
ATP1A2	209.6	1	1	Migraine, familial basilar,	602481
ATP1A2	209.6	1	1	Migraine, familial hemiplegic, 2	602481
ATP1A3	205.7	1	1	Alternating hemiplegia of childhood 2	614820
ATP1A3	205.7	1	1	CAPOS syndrome,	601338
ATP1A3	205.7	1	1	Dystonia-12,	128235
ATP6AP2	55.4	0.83	0.63	?Parkinsonism with spasticity, X-linked,	300911
ATP6AP2	55.4	0.83	0.63	?Mental retardation, X-linked, syndromic, Hedera type,	300423
ATP7A	157.3	0.99	0.97	Menkes disease,	309400
ATP7A	157.3	0.99	0.97	Occipital horn syndrome,	304150
ATP7A	157.3	0.99	0.97	Spinal muscular atrophy, distal, X-linked 3	300489
ATRX	94.5	0.97	0.93	Alpha-thalassemia myelodysplasia syndrome, somatic,	300448
ATRX	94.5	0.97	0.93	Alpha-thalassemia/mental retardation syndrome,	301040
ATRX	94.5	0.97	0.93	Mental retardation-hypotonic facies syndrome, X-linked,	309580
AUTS2	115.2	0.96	0.95	Mental retardation, autosomal dominant 26,	615834
BOLA3	59	0.91	0.82	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,	614299
BRAT1	112.9	0.99	0.96	Rigidity and multifocal seizure syndrome, lethal neonatal,	614498
BTD	163.8	1	0.99	Biotinidase deficiency,	253260
CACNA1A	105.6	0.95	0.91	Episodic ataxia, type 2	108500
CACNA1A	105.6	0.95	0.91	Migraine, familial hemiplegic, 1	141500
CACNA1A	105.6	0.95	0.91	Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia,	141500
CACNA1A	105.6	0.95	0.91	Spinocerebellar ataxia 6	183086
CACNA1E	158.5	0.99	0.99	No OMIM phenotype	183086
CACNA1E	158.5	0.99	0.99	?Epileptic encephalopathy with infantile spasms (Helbig -2016 Genet Med Epub,Epub)	183086
CACNA1E	158.5	0.99	0.99	?Autism (O'Roak -2012 Nature 485,246)	183086
CACNA2D2	160.6	0.94	0.92	No OMIM phenotype	183086
CACNA2D2	160.6	0.94	0.92	Epileptic encephalopathy (Pippucci -2013 PLoS One 8,e82154)	183086
CACNA2D2	160.6	0.94	0.92	?Schizophrenia (Purcell -2014 Nature 506 185)	183086
CASK	116.5	0.98	0.94	FG syndrome 4	300422
CASK	116.5	0.98	0.94	Mental retardation and microcephaly with pontine and cerebellar hypoplasia,	300749
CASK	116.5	0.98	0.94	Mental retardation, with or without nystagmus,	300422
CDKL5	140.7	0.98	0.96	Epileptic encephalopathy, early infantile, 2	300672
CHD2	148.5	0.99	0.98	Epileptic encephalopathy, childhood-onset,	615369
CHRNA2	251.6	1	1	Epilepsy, nocturnal frontal lobe, type 4	610353
CHRNA4	168.2	0.97	0.95	Epilepsy, nocturnal frontal lobe, 1	600513
CHRNA4	168.2	0.97	0.95	{Nicotine addiction, susceptibility to},	188890
CHRNB2	267.9	0.99	0.98	Epilepsy, nocturnal frontal lobe, 3	605375
CLDN16	161.4	1	0.99	Hypomagnesemia 3 renal,	248250
CLDN19	143.1	0.98	0.95	Hypomagnesemia 5 renal, with ocular involvement,	248190
CLN3	125.9	0.98	0.94	Ceroid lipofuscinosis, neuronal, 3	204200
CLN5	163.1	0.98	0.93	Ceroid lipofuscinosis, neuronal, 5	256731
CLN6	142.3	0.98	0.94	Ceroid lipofuscinosis, neuronal, 6	601780
CLN6	142.3	0.98	0.94	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,	204300
CLN8	252.4	1	1	Ceroid lipofuscinosis, neuronal, 8	600143
CLN8	252.4	1	1	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,	610003
CNNM2	213.2	0.99	0.99	Hypomagnesemia 6 renal,	613882
CNNM2	213.2	0.99	0.99	Hypomagnesemia, seizures, and mental retardation,	616418
CNTN2	148.2	1	0.99	?Epilepsy, myoclonic, familial adult, 5	615400
CNTNAP2	156.8	1	0.99	Cortical dysplasia-focal epilepsy syndrome,	610042
CNTNAP2	156.8	1	0.99	Pitt-Hopkins like syndrome 1	610042
CNTNAP2	156.8	1	0.99	{Autism susceptibility 15},	612100
COL4A1	101.8	0.98	0.93	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,	611773
COL4A1	101.8	0.98	0.93	Brain small vessel disease with or without ocular anomalies,	607595
COL4A1	101.8	0.98	0.93	Porencephaly 1	175780
COL4A1	101.8	0.98	0.93	?Retinal arteries, tortuosity of,	180000
COL4A1	101.8	0.98	0.93	{Hemorrhage, intracerebral, susceptibility to},	614519
COL4A3BP	140.6	0.99	0.96	Mental retardation, autosomal dominant 34	616351
COQ2	84.5	0.95	0.92	Coenzyme Q10 deficiency, primary, 1	607426
COQ2	84.5	0.95	0.92	{Multiple system atrophy, susceptibility to},	146500
COQ4	94	0.86	0.82	Coenzyme Q10 deficiency, primary, 7	616276
CPA6	139.5	0.99	0.98	Epilepsy, familial temporal lobe, 5	614417
CPA6	139.5	0.99	0.98	Febrile seizures, familial, 11	614418
CPS1	169.3	1	0.99	Carbamoylphosphate synthetase I deficiency,	237300
CPS1	169.3	1	0.99	{Pulmonary hypertension, neonatal, susceptibility to},	615371
CPS1	169.3	1	0.99	{Venoocclusive disease after bone marrow transplantation}	615371
CPT2	168.6	0.98	0.96	CPT deficiency, hepatic, type II,	600649
CPT2	168.6	0.98	0.96	CPT II deficiency, lethal neonatal,	608836
CPT2	168.6	0.98	0.96	Myopathy due to CPT II deficiency,	255110
CPT2	168.6	0.98	0.96	{Encephalopathy, acute, infection-induced, 4 susceptibility to},	614212
CSTB	120.6	1	0.99	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),	254800
CTSD	183.6	0.99	0.98	Ceroid lipofuscinosis, neuronal, 10	610127
CTSF	117.4	0.89	0.82	Ceroid lipofuscinosis, neuronal, 13 Kufs type,	615362
CUL4B	83.8	0.96	0.9	Mental retardation, X-linked, syndromic 15 (Cabezas type),	300354
D2HGDH	147.9	0.97	0.95	D-2-hydroxyglutaric aciduria,	600721
DCX	137.9	1	0.99	Lissencephaly, X-linked,	300067
DCX	137.9	1	0.99	Subcortical laminal heteropia, X-linked,	300067
DEPDC5	162.3	0.99	0.99	Epilepsy, familial focal, with variable foci,	604364
DLAT	102.4	0.99	0.95	Pyruvate dehydrogenase E2 deficiency,	245348
DNAJC5	205.6	1	0.99	Ceroid lipofuscinosis, neuronal, 4 Parry type,	162350
DNM1	171.5	0.94	0.91	Epileptic encephalopathy, early infantile, 31	616346
DOCK7	128.8	0.97	0.94	Epileptic encephalopathy, early infantile, 23	615859
DPAGT1	134.5	1	1	Congenital disorder of glycosylation, type Ij,	608093
DPAGT1	134.5	1	1	Myasthenic syndrome, congenital, 13 with tubular aggregates,	614750
DPM1	136.9	0.89	0.84	Congenital disorder of glycosylation, type Ie,	608799
DPM2	115.2	1	0.99	Congenital disorder of glycosylation, type Iu,	615042
DPYD	177.9	0.95	0.94	5-fluorouracil toxicity,	274270
DPYD	177.9	0.95	0.94	Dihydropyrimidine dehydrogenase deficiency,	274270
DYNC1H1	196.8	1	0.99	Charcot-Marie-Tooth disease, axonal, type 20	614228
DYNC1H1	196.8	1	0.99	Mental retardation, autosomal dominant 13	614563
DYNC1H1	196.8	1	0.99	Spinal muscular atrophy, lower extremity-predominant 1 AD,	158600
DYRK1A	176.5	1	0.99	Mental retardation, autosomal dominant 7	614104
EEF1A2	208.6	0.99	0.98	Epileptic encephalopathy, early infantile, 33	616409
EEF1A2	208.6	0.99	0.98	Mental retardation, autosomal dominant 38	616393
EGF	157.6	0.99	0.99	Hypomagnesemia 4 renal,	611718
EHMT1	161.2	0.98	0.96	Kleefstra syndrome,	610253
EPM2A	123.7	0.85	0.83	Epilepsy, progressive myoclonic 2A (Lafora),	254780
FA2H	108.9	0.94	0.88	Spastic paraplegia 35 autosomal recessive,	612319
FARS2	224.8	1	0.99	Combined oxidative phosphorylation deficiency 14	614946
FARS2	224.8	1	0.99	?Spastic paraplegia 77 autosomal recessive,	617046
FASN	136.8	0.99	0.99	No OMIM phenotype	617046
FASN	136.8	0.99	0.99	Intellectual disability (Najmabadi -2011 Nature 478 57)	617046
FASN	136.8	0.99	0.99	?Epileptic encephalopathy (Appenzeller -2014 Am J Hum Genet 95 360)	617046
FASN	136.8	0.99	0.99	?Lennox-Gastaut syndrome (Appenzeller -2014 Am J Hum Genet 95,360)	617046
FGD1	98.1	0.95	0.89	Aarskog-Scott syndrome,	305400
FGD1	98.1	0.95	0.89	Mental retardation, X-linked syndromic 16	305400
FLNA	161.1	0.99	0.99	Cardiac valvular dysplasia, X-linked,	314400
FLNA	161.1	0.99	0.99	Congenital short bowel syndrome,	300048
FLNA	161.1	0.99	0.99	FG syndrome 2	300321
FLNA	161.1	0.99	0.99	Frontometaphyseal dysplasia,	305620
FLNA	161.1	0.99	0.99	Heterotopia, periventricular,	300049
FLNA	161.1	0.99	0.99	Heterotopia, periventricular, ED variant,	300537
FLNA	161.1	0.99	0.99	Intestinal pseudoobstruction, neuronal,	300048
FLNA	161.1	0.99	0.99	Melnick-Needles syndrome,	309350
FLNA	161.1	0.99	0.99	Otopalatodigital syndrome, type I,	311300
FLNA	161.1	0.99	0.99	Otopalatodigital syndrome, type II,	304120
FLNA	161.1	0.99	0.99	Terminal osseous dysplasia,	300244
FOLR1	166.3	1	1	Neurodegeneration due to cerebral folate transport deficiency,	613068
FOXG1	130.8	0.89	0.82	Rett syndrome, congenital variant,	613454
FOXRED1	145.1	1	0.99	Leigh syndrome due to mitochondrial complex I deficiency,	256000
FOXRED1	145.1	1	0.99	Mitochondrial complex I deficiency,	252010
FXYD2	105.5	1	0.99	Hypomagnesemia 2 renal,	154020
GABRA1	199.9	1	1	Epileptic encephalopathy, early infantile, 19	615744
GABRA1	199.9	1	1	{Epilepsy, childhood absence, susceptibility to, 4},	611136
GABRA1	199.9	1	1	{Epilepsy, juvenile myoclonic, susceptibility to, 5},	611136
GABRB3	165.3	0.97	0.93	{Epilepsy, childhood absence, susceptibility to, 5},	612269
GABRG2	178	0.93	0.92	Epilepsy, generalized, with febrile seizures plus, type 3	611277
GABRG2	178	0.93	0.92	Febrile seizures, familial, 8	611277
GABRG2	178	0.93	0.92	{Epilepsy, childhood absence, susceptibility to, 2},	607681
GAMT	119.1	0.97	0.91	Cerebral creatine deficiency syndrome 2	612736
GCK	155.4	1	1	Diabetes mellitus, noninsulin-dependent, late onset,	125853
GCK	155.4	1	1	Diabetes mellitus, permanent neonatal,	606176
GCK	155.4	1	1	Hyperinsulinemic hypoglycemia, familial, 3	602485
GCK	155.4	1	1	MODY, type II,	125851
GCSH	38.8	0.83	0.62	Glycine encephalopathy,	605899
GLDC	90.1	0.91	0.84	Glycine encephalopathy,	605899
GLRA1	136.5	1	1	Hyperekplexia, hereditary 1 autosomal dominant or recessive,	149400
GLRB	100.7	0.96	0.91	Hyperekplexia 2 autosomal recessive,	614619
GLUD1	82.4	0.94	0.86	Hyperinsulinism-hyperammonemia syndrome,	606762
GNAO1	204.8	1	1	Epileptic encephalopathy, early infantile, 17	615473
GOSR2	143.1	0.97	0.95	Epilepsy, progressive myoclonic 6	614018
GPC3	121	0.98	0.94	Simpson-Golabi-Behmel syndrome, type 1	312870
GPC3	121	0.98	0.94	Wilms tumor, somatic,	194070
GPHN	192.1	0.98	0.97	Molybdenum cofactor deficiency C,	615501
GRIA3	112.8	0.99	0.95	Mental retardation, X-linked 94	300699
GRIN1	166.9	1	0.99	Mental retardation, autosomal dominant 8	614254
GRIN2A	176.5	1	1	Epilepsy, focal, with speech disorder and with or without mental retardation,	245570
GRIN2B	213.2	0.99	0.99	Epileptic encephalopathy, early infantile, 27	616139
GRIN2B	213.2	0.99	0.99	Mental retardation, autosomal dominant 6	613970
GRN	206.3	1	1	Aphasia, primary progressive,	607485
GRN	206.3	1	1	Ceroid lipofuscinosis, neuronal, 11	614706
GRN	206.3	1	1	Frontotemporal lobar degeneration with ubiquitin-positive inclusions,	607485
HADH	120.8	0.97	0.95	3-hydroxyacyl-CoA dehydrogenase deficiency,	231530
HADH	120.8	0.97	0.95	Hyperinsulinemic hypoglycemia, familial, 4	609975
HCN1	142.6	0.99	0.98	Epileptic encephalopathy, early infantile, 24	615871
HDAC4	119.7	0.99	0.99	No OMIM phenotype	615871
HLCS	193.1	1	1	Holocarboxylase synthetase deficiency,	253270
HNRNPU	136.6	0.99	0.97	No OMIM phenotype	253270
HNRNPU	136.6	0.99	0.97	Lennox-Gastaut syndrome (Allen -2013 Nature 501,217)	253270
HNRNPU	136.6	0.99	0.97	Fever-associated epilepsy (Hartmann -2015 Epilepsia 56,e26)	253270
HNRNPU	136.6	0.99	0.97	Infantile spasms (Du -2014 BMC Med Genet 15,62)	253270
HNRNPU	136.6	0.99	0.97	Speech delay,seizures and CNS anomalies (Caliebe -2010 Eur J Med Genet 53,179)	253270
HNRNPU	136.6	0.99	0.97	?Seizures (Ballif -2012 Hum Genet 131,145)	253270
HNRNPU	136.6	0.99	0.97	Epileptic encephalopathy (Mefford -2011 Ann Neurol 70,974)	253270
HNRNPU	136.6	0.99	0.97	Preaxial polydactyly (Gupta -2014 Am J Med Genet A 164A,186)	253270
HNRNPU	136.6	0.99	0.97	Intellectual disability & seizures (Thierry -2012 Am J Med Genet A 158A,1633)	253270
HNRNPU	136.6	0.99	0.97	Thin corpus callosum,psychomotor delay & seizures (Selmer -2012 Eur J Med Genet 55,715)	253270
HNRNPU	136.6	0.99	0.97	?Developmental delay and intellectual disability (King -2014 Genome Res 24,673)	253270
HNRNPU	136.6	0.99	0.97	?Intellectual disability (Hamdan -2014 PLoS Genet 10,e	1004772)
HNRNPU	136.6	0.99	0.97	?Intellectual disability,epilepsy,panhypopituitarism,hypertension & other anomalies (Zhu -2015 Genet	1004772)
HNRNPU	136.6	0.99	0.97	Med)	1004772)
HSD17B10	120.3	1	0.98	17-beta-hydroxysteroid dehydrogenase X deficiency,	300438
HSD17B10	120.3	1	0.98	?Mental retardation, X-linked syndromic 10	300220
HSD17B4	110.3	0.94	0.91	D-bifunctional protein deficiency,	261515
HSD17B4	110.3	0.94	0.91	Perrault syndrome 1	233400
IDH2	108.8	0.99	0.98	D-2-hydroxyglutaric aciduria 2	613657
IER3IP1	60.9	0.86	0.78	Microcephaly, epilepsy, and diabetes syndrome,	614231
IFIH1	130	0.98	0.96	Aicardi-Goutieres syndrome 7	615846
IFIH1	130	0.98	0.96	Singleton-Merten syndrome 1	182250
IQSEC2	72.2	0.94	0.86	Mental retardation, X-linked 1/78,	309530
JAM3	166.6	0.99	0.98	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,	613730
KANSL1	94.7	0.94	0.89	Koolen-De Vries syndrome,	610443
KCNA1	178.7	1	0.99	Episodic ataxia/myokymia syndrome,	160120
KCNA2	180.7	1	1	Epileptic encephalopathy, early infantile, 32	616366
KCNB1	149.4	1	0.99	Epileptic encephalopathy, early infantile, 26	616056
KCNC1	213.9	1	0.99	Epilepsy, progressive myoclonic 7	616187
KCNH1	198.9	1	0.99	Temple-Baraitser syndrome,	611816
KCNH1	198.9	1	0.99	Zimmermann-Laband syndrome 1	135500
KCNJ10	229	1	0.99	Enlarged vestibular aqueduct, digenic,	600791
KCNJ10	229	1	0.99	SESAME syndrome,	612780
KCNJ11	302.7	1	1	Diabetes mellitus, permanent neonatal, with neurologic features,	606176
KCNJ11	302.7	1	1	Diabetes mellitus, transient neonatal, 3	610582
KCNJ11	302.7	1	1	Diabetes, permanent neonatal,	606176
KCNJ11	302.7	1	1	Hyperinsulinemic hypoglycemia, familial, 2	601820
KCNJ11	302.7	1	1	Maturity-onset diabetes of the young, type 13	616329
KCNJ11	302.7	1	1	{Diabetes mellitus, type 2 susceptibility to},	125853
KCNMA1	158.7	1	0.99	Generalized epilepsy and paroxysmal dyskinesia,	609446
KCNQ2	103.9	0.98	0.96	Epileptic encephalopathy, early infantile, 7	613720
KCNQ2	103.9	0.98	0.96	Myokymia,	121200
KCNQ2	103.9	0.98	0.96	Seizures, benign neonatal, 1	121200
KCNQ3	117.6	0.99	0.96	Seizures, benign neonatal, type 2	121201
KCNT1	129.2	0.95	0.93	Epilepsy, nocturnal frontal lobe, 5	615005
KCNT1	129.2	0.95	0.93	Epileptic encephalopathy, early infantile, 14	614959
KCTD7	144.9	0.93	0.92	Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,	611726
KDM5C	128.3	0.98	0.95	Mental retardation, X-linked, syndromic, Claes-Jensen type,	300534
KIAA2022	183	1	0.99	Mental retardation, X-linked 98	300912
KPTN	118.2	1	0.99	Mental retardation, autosomal recessive 41	615637
LGI1	203.4	0.98	0.95	Epilepsy, familial temporal lobe, 1	600512
LIAS	159.6	0.99	0.95	Hyperglycinemia, lactic acidosis, and seizures,	614462
MBD5	202.7	1	0.99	Mental retardation, autosomal dominant 1	156200
MECP2	100	0.99	0.94	Encephalopathy, neonatal severe,	300673
MECP2	100	0.99	0.94	Mental retardation, X-linked syndromic, Lubs type,	300260
MECP2	100	0.99	0.94	Mental retardation, X-linked, syndromic 13	300055
MECP2	100	0.99	0.94	Rett syndrome,	312750
MECP2	100	0.99	0.94	Rett syndrome, atypical,	312750
MECP2	100	0.99	0.94	Rett syndrome, preserved speech variant,	312750
MECP2	100	0.99	0.94	{Autism susceptibility, X-linked 3},	300496
MED12	116.5	0.98	0.95	Lujan-Fryns syndrome,	309520
MED12	116.5	0.98	0.95	Ohdo syndrome, X-linked,	300895
MED12	116.5	0.98	0.95	Opitz-Kaveggia syndrome,	305450
MEF2C	142.4	0.98	0.93	Chromosome 5q14,3 deletion syndrome,	613443
MEF2C	142.4	0.98	0.93	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,	613443
MFSD8	137.1	0.99	0.98	Ceroid lipofuscinosis, neuronal, 7	610951
MFSD8	137.1	0.99	0.98	Macular dystrophy with central cone involvement,	616170
MOCS1	92.2	0.98	0.93	Molybdenum cofactor deficiency A,	252150
MOCS2	156.7	0.99	0.98	Molybdenum cofactor deficiency B,	252160
MPDU1	131.9	1	0.99	Congenital disorder of glycosylation, type If,	609180
MTHFR	153.2	1	0.99	Homocystinuria due to MTHFR deficiency,	236250
MTHFR	153.2	1	0.99	{Neural tube defects, susceptibility to},	601634
MTHFR	153.2	1	0.99	{Schizophrenia, susceptibility to},	181500
MTHFR	153.2	1	0.99	{Thromboembolism, susceptibility to},	188050
MTHFR	153.2	1	0.99	{Vascular disease, susceptibility to}	188050
MTOR	152.8	1	0.99	Smith-Kingsmore syndrome,	616638
NDUFA1	236.8	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFA11	95.1	0.99	0.94	Mitochondrial complex I deficiency,	252010
NDUFAF1	120.7	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFAF2	59.8	0.81	0.67	Leigh syndrome,	256000
NDUFAF2	59.8	0.81	0.67	Mitochondrial complex I deficiency,	252010
NDUFAF3	122.5	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFAF4	103.9	0.98	0.91	Mitochondrial complex I deficiency,	252010
NDUFAF5	104.7	0.97	0.94	Mitochondrial complex 1 deficiency,	252010
NDUFB3	23.3	0.91	0.56	Mitochondrial complex I deficiency,	252010
NDUFB9	128.2	0.99	0.97	?Mitochondrial complex I deficiency,	252010
NDUFS1	154.7	0.99	0.98	Mitochondrial complex I deficiency,	252010
NDUFS2	120.4	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFS3	151.1	0.9	0.9	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFS3	151.1	0.9	0.9	Mitochondrial complex I deficiency,	252010
NDUFS4	175.1	1	0.98	Leigh syndrome,	256000
NDUFS4	175.1	1	0.98	Mitochondrial complex I deficiency,	252010
NDUFS6	138.1	0.99	0.99	Mitochondrial complex I deficiency,	252010
NDUFV1	168.6	0.99	0.97	Mitochondrial complex I deficiency,	252010
NDUFV2	74.1	0.84	0.62	Mitochondrial complex I deficiency,	252010
NECAP1	133.2	1	1	?Epileptic encephalopathy, early infantile, 21	615833
NEDD4L	163.6	0.99	0.97	No OMIM phenotype	615833
NEDD4L	163.6	0.99	0.97	{Essential hypertension, association with} (Russo -2005 Hypertension 46,488)	615833
NEDD4L	163.6	0.99	0.97	Epilepsy,photosensitive generalised (Dibbens (2007),Genes Brain Behav 6,750)	615833
NEDD4L	163.6	0.99	0.97	Infantile spasms (Allen -2013 Nature 501,217)	615833
NEDD4L	163.6	0.99	0.97	Impaired ENaC regulation (Fouladkou -2004 Am J Physiol Renal Physiol 287,F550)	615833
NGLY1	140.8	0.99	0.98	Congenital disorder of deglycosylation,	615273
NHLRC1	174.4	1	0.99	Epilepsy, progressive myoclonic 2B (Lafora),	254780
NRXN1	182	0.99	0.97	Pitt-Hopkins-like syndrome 2	614325
NRXN1	182	0.99	0.97	{Schizophrenia, susceptibility to, 17},	614332
NUBPL	101.7	0.9	0.85	Mitochondrial complex I deficiency,	252010
OFD1	56.1	0.84	0.71	Joubert syndrome 10	300804
OFD1	56.1	0.84	0.71	Orofaciodigital syndrome I,	311200
OFD1	56.1	0.84	0.71	Simpson-Golabi-Behmel syndrome, type 2	300209
OFD1	56.1	0.84	0.71	?Retinitis pigmentosa 23	300424
OPHN1	113.4	0.99	0.96	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance,	300486
PAK3	95.9	0.97	0.91	Mental retardation, X-linked 30/47,	300558
PC	162.8	0.99	0.97	Pyruvate carboxylase deficiency,	266150
PCDH19	226.4	1	0.99	Epileptic encephalopathy, early infantile, 9	300088
PDHA1	127.8	0.97	0.92	Pyruvate dehydrogenase E1-alpha deficiency,	312170
PDHB	144	0.98	0.95	Pyruvate dehydrogenase E1-beta deficiency,	614111
PDP1	209.6	1	1	Pyruvate dehydrogenase phosphatase deficiency,	608782
PDX1	35.9	0.91	0.71	MODY, type IV,	606392
PDX1	35.9	0.91	0.71	Pancreatic agenesis 1	260370
PDX1	35.9	0.91	0.71	{Diabetes mellitus, type II, susceptibility to},	125853
PET100	127.6	0.95	0.82	Mitochondrial complex IV deficiency,	220110
PEX1	123.4	0.97	0.95	Heimler syndrome 1	234580
PEX1	123.4	0.97	0.95	Peroxisome biogenesis disorder 1A (Zellweger),	214100
PEX1	123.4	0.97	0.95	Peroxisome biogenesis disorder 1B (NALD/IRD),	601539
PEX10	118.3	0.97	0.93	Peroxisome biogenesis disorder 6A (Zellweger),	614870
PEX10	118.3	0.97	0.93	Peroxisome biogenesis disorder 6B,	614871
PEX12	165.4	1	0.99	Peroxisome biogenesis disorder 3A (Zellweger),	614859
PEX12	165.4	1	0.99	Peroxisome biogenesis disorder 3B,	266510
PEX13	212.2	0.99	0.98	Peroxisome biogenesis disorder 11A (Zellweger),	614883
PEX13	212.2	0.99	0.98	Peroxisome biogenesis disorder 11B,	614885
PEX14	143.6	0.99	0.98	Peroxisome biogenesis disorder 13A (Zellweger),	614887
PEX16	138.5	0.96	0.92	Peroxisome biogenesis disorder 8A, (Zellweger),	614876
PEX16	138.5	0.96	0.92	Peroxisome biogenesis disorder 8B,	614877
PEX19	121	1	0.99	Peroxisome biogenesis disorder 12A (Zellweger),	614886
PEX26	86.5	0.99	0.99	Peroxisome biogenesis disorder 7A (Zellweger),	614872
PEX26	86.5	0.99	0.99	Peroxisome biogenesis disorder 7B,	614873
PEX3	108.8	0.98	0.94	Peroxisome biogenesis disorder 10A (Zellweger),	614882
PEX5	126.7	0.99	0.97	Peroxisome biogenesis disorder 2A (Zellweger),	214110
PEX5	126.7	0.99	0.97	Peroxisome biogenesis disorder 2B,	202370
PEX5	126.7	0.99	0.97	Rhizomelic chondrodysplasia punctata, type 5	616716
PEX6	92	0.9	0.84	Heimler syndrome 2	616617
PEX6	92	0.9	0.84	Peroxisome biogenesis disorder 4A (Zellweger),	614862
PEX6	92	0.9	0.84	Peroxisome biogenesis disorder 4B,	614863
PGAP3	135.7	0.98	0.95	Hyperphosphatasia with mental retardation syndrome 4	615716
PHF6	77.9	0.92	0.83	Borjeson-Forssman-Lehmann syndrome,	301900
PHGDH	138.6	1	0.99	Neu-Laxova syndrome 1	256520
PHGDH	138.6	1	0.99	Phosphoglycerate dehydrogenase deficiency,	601815
PIGA	102.1	0.92	0.84	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868
PIGA	102.1	0.92	0.84	Paroxysmal nocturnal hemoglobinuria, somatic,	300818
PIGN	128.6	0.95	0.89	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080
PIGO	140.6	1	0.99	Hyperphosphatasia with mental retardation syndrome 2	614749
PIGT	174.6	0.99	0.99	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398
PIGT	174.6	0.99	0.99	?Paroxysmal nocturnal hemoglobinuria 2	615399
PLA2G6	132.4	0.99	0.98	Infantile neuroaxonal dystrophy 1	256600
PLA2G6	132.4	0.99	0.98	Neurodegeneration with brain iron accumulation 2B,	610217
PLA2G6	132.4	0.99	0.98	Parkinson disease 14 autosomal recessive,	612953
PLCB1	177.3	0.99	0.99	Epileptic encephalopathy, early infantile, 12	613722
PLP1	162.1	1	0.99	Pelizaeus-Merzbacher disease,	312080
PLP1	162.1	1	0.99	Spastic paraplegia 2 X-linked,	312920
PMM2	178.4	0.99	0.99	Congenital disorder of glycosylation, type Ia,	212065
PNKP	98.4	0.99	0.97	Ataxia-oculomotor apraxia 4	616267
PNKP	98.4	0.99	0.97	Microcephaly, seizures, and developmental delay,	613402
PNPO	84.2	1	0.99	Pyridoxamine 5'-phosphate oxidase deficiency,	610090
POLG	126.2	0.99	0.99	Mitochondrial DNA depletion syndrome 4A (Alpers type),	203700
POLG	126.2	0.99	0.99	Mitochondrial DNA depletion syndrome 4B (MNGIE type),	613662
POLG	126.2	0.99	0.99	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),	607459
POLG	126.2	0.99	0.99	Progressive external ophthalmoplegia, autosomal dominant 1	157640
POLG	126.2	0.99	0.99	Progressive external ophthalmoplegia, autosomal recessive 1	258450
PPP2R1A	151.6	0.93	0.92	Mental retardation, autosomal dominant 36	616362
PPT1	190.4	1	1	Ceroid lipofuscinosis, neuronal, 1	256730
PQBP1	174.3	0.97	0.96	Renpenning syndrome,	309500
PRICKLE1	137.2	1	1	Epilepsy, progressive myoclonic 1B,	612437
PRICKLE2	143.3	1	0.99	No OMIM phenotype	612437
PRICKLE2	143.3	1	0.99	?Autism spectrum disorder (Sowers -2013 Mol Psychiatry 18 1077)	612437
PRICKLE2	143.3	1	0.99	?Myoclonus epilepsy (Tao -2011 Am J Hum Genet 88,138)	612437
PRRT2	80.7	0.99	0.98	Convulsions, familial infantile, with paroxysmal choreoathetosis,	602066
PRRT2	80.7	0.99	0.98	Episodic kinesigenic dyskinesia 1	128200
PRRT2	80.7	0.99	0.98	Seizures, benign familial infantile, 2	605751
PURA	125.2	0.98	0.95	Mental retardation, autosomal dominant 31	616158
PYCR2	137.6	0.99	0.98	Leukodystrophy, hypomyelinating, 10	616420
QARS	167.3	1	0.99	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy,	615760
RAB39B	139.4	1	0.99	Mental retardation, X-linked 72	300271
RAB39B	139.4	1	0.99	?Waisman syndrome,	311510
RARS2	126.3	0.99	0.98	Pontocerebellar hypoplasia, type 6	611523
RNASEH2A	149.3	1	0.99	Aicardi-Goutieres syndrome 4	610333
RNASEH2B	125.1	0.94	0.84	Aicardi-Goutieres syndrome 2	610181
RNASEH2C	207.6	0.99	0.97	Aicardi-Goutieres syndrome 3	610329
ROGDI	134	0.97	0.95	Kohlschutter-Tonz syndrome,	226750
RPS6KA3	99.5	0.94	0.87	Coffin-Lowry syndrome,	303600
RPS6KA3	99.5	0.94	0.87	Mental retardation, X-linked 19	300844
RRM2B	148.4	0.99	0.97	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy),	612075
RRM2B	148.4	0.99	0.97	Mitochondrial DNA depletion syndrome 8B (MNGIE type),	612075
RRM2B	148.4	0.99	0.97	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	612075
RRM2B	148.4	0.99	0.97	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	613077
SAMHD1	149.9	0.99	0.98	Aicardi-Goutieres syndrome 5	612952
SAMHD1	149.9	0.99	0.98	?Chilblain lupus 2	614415
SCARB2	138.9	0.99	0.98	Epilepsy, progressive myoclonic 4 with or without renal failure,	254900
SCN1A	157.3	0.99	0.98	Dravet syndrome,	607208
SCN1A	157.3	0.99	0.98	Epilepsy, generalized, with febrile seizures plus, type 2	604403
SCN1A	157.3	0.99	0.98	Febrile seizures, familial, 3A,	604403
SCN1A	157.3	0.99	0.98	Migraine, familial hemiplegic, 3	609634
SCN1B	180.2	0.97	0.96	Atrial fibrillation, familial, 13	615377
SCN1B	180.2	0.97	0.96	Brugada syndrome 5	612838
SCN1B	180.2	0.97	0.96	Cardiac conduction defect, nonspecific,	612838
SCN1B	180.2	0.97	0.96	Epilepsy, generalized, with febrile seizures plus, type 1	604233
SCN2A	170.4	0.99	0.97	Epileptic encephalopathy, early infantile, 11	613721
SCN2A	170.4	0.99	0.97	Seizures, benign familial infantile, 3	607745
SCN8A	224.3	0.99	0.99	Epileptic encephalopathy, early infantile, 13	614558
SCN8A	224.3	0.99	0.99	?Cognitive impairment with or without cerebellar ataxia,	614306
SIK1	99.2	0.98	0.94	Epileptic encephalopathy, early infantile, 30	616341
SLC13A5	176.9	1	1	Epileptic encephalopathy, early infantile, 25	615905
SLC16A1	167.2	0.99	0.97	Erythrocyte lactate transporter defect,	245340
SLC16A1	167.2	0.99	0.97	Hyperinsulinemic hypoglycemia, familial, 7	610021
SLC16A1	167.2	0.99	0.97	Monocarboxylate transporter 1 deficiency,	616095
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	616095
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	607483
SLC25A1	84.7	0.97	0.9	Combined D-2- and L-2-hydroxyglutaric aciduria,	615182
SLC25A15	228.7	0.98	0.95	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,	238970
SLC25A22	117.1	0.99	0.96	Epileptic encephalopathy, early infantile, 3	609304
SLC2A1	183.5	1	1	Dystonia 9	601042
SLC2A1	183.5	1	1	GLUT1 deficiency syndrome 1 infantile onset, severe,	606777
SLC2A1	183.5	1	1	GLUT1 deficiency syndrome 2 childhood onset,	612126
SLC2A1	183.5	1	1	Stomatin-deficient cryohydrocytosis with neurologic defects,	608885
SLC2A1	183.5	1	1	{Epilepsy, idiopathic generalized, susceptibility to, 12},	614847
SLC35A2	118.7	0.99	0.96	Congenital disorder of glycosylation, type IIm,	300896
SLC6A1	166.1	1	0.99	Myoclonic-atonic epilepsy,	616421
SLC6A8	61.1	0.92	0.82	Cerebral creatine deficiency syndrome 1	300352
SLC9A6	126.9	0.97	0.9	Mental retardation, X-linked syndromic, Christianson type,	300243
SMARCA2	131.1	0.96	0.94	Nicolaides-Baraitser syndrome,	601358
SMC1A	120	1	0.99	Cornelia de Lange syndrome 2,30059	601358
SMS	70.1	0.88	0.76	Mental retardation, X-linked, Snyder-Robinson type,	309583
SPTAN1	139.4	0.99	0.98	Epileptic encephalopathy, early infantile, 5	613477
ST3GAL3	193.7	1	1	Epileptic encephalopathy, early infantile, 15	615006
ST3GAL3	193.7	1	1	Mental retardation, autosomal recessive 12	611090
ST3GAL5	138.4	0.95	0.94	Amish infantile epilepsy syndrome,	609056
STXBP1	147.9	1	1	Epileptic encephalopathy, early infantile, 4	612164
SUOX	219.5	1	1	Sulfite oxidase deficiency,	272300
SYN1	79.6	0.83	0.7	Epilepsy, X-linked, with variable learning disabilities and behavior disorders,	300491
SYNGAP1	75	0.95	0.86	Mental retardation, autosomal dominant 5	612621
SYP	77.8	0.99	0.95	Mental retardation, X-linked 96	300802
SZT2	157.5	0.99	0.99	Epileptic encephalopathy, early infantile, 18	615476
TBC1D24	178.8	1	0.99	Deafness , autosomal recessive 86	614617
TBC1D24	178.8	1	0.99	Deafness, autosomal dominant 65	616044
TBC1D24	178.8	1	0.99	DOOR syndrome,	220500
TBC1D24	178.8	1	0.99	Epileptic encephalopathy, early infantile, 16	615338
TBC1D24	178.8	1	0.99	Myoclonic epilepsy, infantile, familial,	605021
TBCE	151.6	0.99	0.98	Hypoparathyroidism-retardation-dysmorphism syndrome,	241410
TBCE	151.6	0.99	0.98	Kenny-Caffey syndrome, type 1	244460
TCF4	160.1	0.99	0.99	Corneal dystrophy, Fuchs endothelial, 3	613267
TCF4	160.1	0.99	0.99	Pitt-Hopkins syndrome,	610954
TDP2	177.7	0.99	0.97	Spinocerebellar ataxia, autosomal recessive,	616949
TPP1	158.7	1	1	Ceroid lipofuscinosis, neuronal, 2	204500
TPP1	158.7	1	1	Spinocerebellar ataxia, autosomal recessive 7	609270
TREX1	272.2	1	1	Aicardi-Goutieres syndrome 1 dominant and recessive,	225750
TREX1	272.2	1	1	Chilblain lupus,	610448
TREX1	272.2	1	1	Vasculopathy, retinal, with cerebral leukodystrophy,	192315
TREX1	272.2	1	1	{Systemic lupus erythematosus, susceptibility to},	152700
TRPM6	172.4	0.99	0.98	Hypomagnesemia 1 intestinal,	602014
TSC1	149.6	0.99	0.98	Lymphangioleiomyomatosis,	606690
TSC1	149.6	0.99	0.98	Tuberous sclerosis-1,	191100
TSC2	144.5	0.99	0.98	Lymphangioleiomyomatosis, somatic,	606690
TSC2	144.5	0.99	0.98	Tuberous sclerosis-2,	613254
TUBB2A	119.2	0.99	0.97	Cortical dysplasia, complex, with other brain malformations 5	615763
TUBG1	185.9	1	1	Cortical dysplasia, complex, with other brain malformations 4	615412
UBE3A	103.9	0.98	0.93	Angelman syndrome,	105830
WWOX	148	1	0.99	Epileptic encephalopathy, early infantile, 28	616211
WWOX	148	1	0.99	Esophageal squamous cell carcinoma, somatic,	133239
WWOX	148	1	0.99	Spinocrebellar ataxia, autosomal recessive 12	614322
ZEB2	181.5	1	0.99	Mowat-Wilson syndrome,	235730

Solicita el test

Within the qGenEx services, the directed exome panels allow to restrict the study to a specific group of genes according to each specialty.

qGenEx CA, analyzes 408 genes associated with Epilepsy using complete exome sequencing by NGS.

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:

gene
AARS1
ABAT
ACOX1
ACTL6B
ADAR
ADGRG1
ADPRS
ADSL
AFF3
AIMP1
AKT3
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG13
ALG3
ALG6
ALG8
ALG9
ALPL
AMPD2
AMT
AP2M1
AP3B2
ARFGEF2
ARG1
ARHGEF9
ARID1B
ARV1
ARX
ASAH1
ASPA
ATN1
ATP1A1
ATP1A2
ATP1A3
ATP6V0A2
ATP6V1A
ATP7A
ATRX
BCKDHA
BCKDHB
BCS1L
BOLA3
BRAF
BRAT1
BSCL2
BTD
C12orf57
CACNA1A
CACNA1B
CACNA1D
CACNA1E
CACNA1G
CACNA2D2
CAD
CASK
CC2D2A
CDKL5
CHD2
CHRNA2
CHRNA4
CHRNB2
CIC
CLCN4
CLN3
CLN8
CLTC
CNKSR2
CNNM2
CNPY3
CNTNAP2
COG7
COL18A1
COL4A1
COL4A2
COQ2
COQ4
COQ9
CPA6
CREBBP
CSNK2B
CSTB
CTNNA2
CTSD
CUL4B
CUX2
CYFIP2
D2HGDH
DBT
DCX
DDX3X
DEAF1
DEGS1
DENND5A
DEPDC5
DHDDS
DHPS
DHX30
DIAPH1
DNM1
DNM1L
DOCK7
DPAGT1
DPM1
DPYD
DYNC1H1
DYRK1A
EARS2
EEF1A2
EFTUD2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
EIF3F
EML1
EPG5
EPM2A
ETHE1
EXOSC3
FARS2
FBXL4
FBXO11
FGF12
FKTN
FLNA
FOLR1
FOXG1
FRRS1L
FUCA1
FUT8
GABBR2
GABRA1
GABRA2
GABRA5
GABRB2
GABRB3
GABRG2
GALC
GAMT
GBA
GFAP
GLB1
GLDC
GLUD1
GLUL
GM2A
GNAO1
GNAQ
GNB1
GNB5
GOSR2
GOT2
GPAA1
GPHN
GRIA4
GRIN1
GRIN2A
GRIN2B
GRIN2D
GTPBP2
HACE1
HAX1
HCFC1
HCN1
HCN2
HECW2
HEPACAM
HEXA
HEXB
HMGCL
HNRNPH2
HNRNPR
HNRNPU
HRAS
HSD17B4
HTRA2
IER3IP1
IFIH1
IKBKG
IQSEC2
IRF2BPL
ITPA
KARS1
KCNA2
KCNB1
KCNC1
KCNJ10
KCNJ11
KCNK4
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KIAA1109
NEXMIF
KIF1A
KIF2A
KIF5C
KMT2E
KRAS
LGI1
LIAS
MACF1
MAF
MAGI2
MAP2K1
MAP2K2
MBD5
MBOAT7
MDH2
MECP2
MED12
MEF2C
MFF
MFSD8
MLC1
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPDU1
MTHFR
MTOR
NACC1
NAGA
NARS2
NBEA
NDE1
NDUFA1
NDUFA10
NDUFAF2
NDUFAF5
NDUFS4
NDUFS8
NDUFV1
NGLY1
NHLRC1
NPRL2
NPRL3
NRXN1
NSD1
NSDHL
NTRK2
NUS1
OCLN
OPHN1
OTUD6B
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PARS2
PCCA
PCCB
PCDH12
PCDH19
PDHA1
PDHX
PET100
PHACTR1
PHGDH
PIGA
PIGB
PIGC
PIGG
PIGH
PIGN
PIGO
PIGQ
PIGT
PIGU
PIGW
PIK3R2
PLAA
PLCB1
PMM2
PNKP
PNPO
POLG
POMGNT1
POMT1
PPP2CA
PPP3CA
PPT1
PRICKLE1
PRMT7
PLPBP
PRRT2
PSAP
PTPN23
PTS
PURA
QARS1
RAB11B
RAB18
RALA
RARS2
RELN
RFT1
RHOBTB2
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
ROGDI
RORA
RORB
RTN4IP1
RTTN
SAMHD1
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SEPSECS
SETBP1
SGSH
SIK1
SLC12A5
SLC13A5
SLC16A2
SLC1A2
SLC1A4
SLC25A1
SLC25A12
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SLC6A8
SLC9A6
SMARCA2
SMARCC2
SMC1A
SMS
SNAP25
SNORD118
SPATA5
SPTAN1
ST3GAL5
STAG1
STAMBP
STRADA
STX1B
STXBP1
SUCLA2
SUOX
SURF1
SYN1
SYNGAP1
SYNJ1
SZT2
TANGO2
TBC1D24
TBCD
TBCK
TBL1XR1
TCF4
TDP2
TPP1
TRAK1
TREX1
TRIM8
TRPM6
TSC1
TSC2
TSEN54
TUBA1A
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
UBA5
UBE2A
UBE3A
UFM1
UNC80
VAMP2
VARS1
VPS11
WARS2
WASF1
WDR37
WDR45
WDR73
WWOX
YWHAG
ZBTB18
ZDHHC9
ZEB2
ZNF142

One analysis for each specialty… and for All.

Download the informed consent document HERE

Access the order platform Print application form

How to order a test

Identify the adequate test from our service catalogue.
Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
It is crucial to correctly identify the sample with patient name or identifier and date of birth.
Print the completed application form and sign it.
Collect the required sample quantity.
Properly prepare the sample shipment along with the application form.
Alternatively, the order can be processed conveniently via our online order platform.

Required specifications for biologic samples

Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
Purified DNA – usually >5 ug, at >50 ng/ul
Saliva or buccal swab – Request collection kit
Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
Amniotic fluid – Minimum of 10 ml
CVS – Minimum of 2-3 villi
Cord blood – Minimum 1 ml
Cultured cells – 1 vial of 25 ml, minimum 80% confluence
Biopsy or fresh tissue – More than 10 mg of tissue
Paraffin-embedded tissue – At least 10 cuts of 20 um
cfDNA – 1 tube DNA BCT Streck with 10 ml of blood

How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
Blood for cfDNA analysis: must be shipped at room temperature.

qGenEx® EP. Epilepsy

qGenEx® EP. Epilepsy

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:

One analysis for each specialty… and for All.

qGenEx AC. Craneofacial Panel

qGenEx CA. Cardiology Panel

qGenEx® ID. Intellectual Disability

qGenEx® MiD. Mitochondrial Disorders

qGenEx® EP. Epilepsy

qGenEx® ED. Eye Disorders

qGenEx® HH. Hypogonadotrophic Hypogonadism

qGenEx® PI. Primary Immunodeficiencies

qGenEx® MEN. Mendeliome

qGenEx® MY. Myopathies

qGenEx® ND. Neurological Disorders

qGenEx® CP. Ciliopathies

qGenEx® HI. Hearing Impairment

qGenEx® SDD. Sex Development Disorders

qGenEx® IMD. Iron Metabolism Disorders

qGenEx® HD. Hematological Disorders

qGenEx® MeD. Metabolic Disorders

qGenEx® MoD. Movement Disorders

qGenEx® RD. Renal Disorders

qGenEx® SD. Skin Disorders

“Calidad” en las pruebas de detección de Covid-19

El test más rápido para detectar COVID-19 es la RT-PCR

Acreditación ENAC – ISO 15189

Tel. 932 301 270